Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554333853
rs1554333853
CDK13
54 0.689 0.320 7 40046006 missense variant A/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518946
rs1057518946
GJB1
8 0.882 0.080 X 71223816 missense variant G/T snv 0.700 0
dbSNP: rs137854521
rs137854521
ANO5
9 0.851 0.200 11 22221100 frameshift variant -/A delins 0.700 0
dbSNP: rs1554438441
rs1554438441
CLCN1
5 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
dbSNP: rs1555452876
rs1555452876
PKD1 ; MIR6511B1
5 1.000 16 2106222 inframe deletion CTC/- delins 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0